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Amyloid
The Journal of Protein Folding Disorders
Volume 20, 2013 - Issue 3
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Case Report

An amyotrophic lateral sclerosis-like syndrome revealing an amyloid polyneuropathy associated with a novel transthyretin mutation

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Pages 188-192 | Received 12 Mar 2013, Accepted 07 Jun 2013, Published online: 05 Aug 2013

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Antoine Pegat & Emilien Bernard. (2023) Immunoglobulin light-chain amyloidosis mimicking bulbar amyotrophic lateral sclerosis. Amyloid 30:3, pages 346-347.
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David Adams, Cecile Cauquil, Céline Labeyrie, Guillemette Beaudonnet, Vincent Algalarrondo & Marie Théaudin. (2016) TTR kinetic stabilizers and TTR gene silencing: a new era in therapy for familial amyloidotic polyneuropathies. Expert Opinion on Pharmacotherapy 17:6, pages 791-802.
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Nizar Souayah, Ankit Pahwa, Mustafa Jaffry, Tejas Patel, Abu Nasar, Zhao Zhong Chong & Howard W. Sander. (2023) Electrodiagnostic profile of conduction slowing in amyotrophic lateral sclerosis. Heliyon 9:8, pages e18400.
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Richard Wlodarski, Kaitlin Seibert, Naoum P. Issa, Bill O'Brien‐Penney, Betty Soliven, Nitasha Sarswat, Daniel Appelbaum & Kourosh Rezania. (2022) 99m Technetium‐pyrophosphate bone scan: A potential biomarker for the burden of transthyretin amyloidosis in skeletal muscle: A preliminary study . Muscle & Nerve 67:2, pages 111-116.
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Justin Kwan & Mithila Vullaganti. (2022) Amyotrophic lateral sclerosis mimics. Muscle & Nerve 66:3, pages 240-252.
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Xiaochen Lin, Aaron Yarlas, Montserrat Vera-Llonch, Nishtha Baranwal, Josh Biber, Duncan Brown, Braden Vogt & Chafic Karam. (2021) Rate of neuropathic progression in hereditary transthyretin amyloidosis with polyneuropathy and other peripheral neuropathies: a systematic review and meta-analysis. BMC Neurology 21:1.
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J.-B. Davion, P. Bocquillon, F. Cassim, N. Frezel, A. Lacour, C.-M. Dhaenens, C.-A. Maurage, J.-B. Gibier, E. Hachulla, S. Nguyen The Tich, L. Defebvre, P.-E. Merle & C. Tard. (2021) Electro-clinical presentation of hereditary transthyretin related amyloidosis when presenting as a polyneuropathy of unknown origin in northern France. Revue Neurologique 177:9, pages 1160-1167.
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Saša A Živković. (2020) Neuropathy Associated with Hereditary Transthyretin Amyloidosis—Diagnosis and Management. US Neurology 16:2, pages 103.
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David Adams, Haruki Koike, Michel Slama & Teresa Coelho. (2019) Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nature Reviews Neurology 15:7, pages 387-404.
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M. Théaudin, P. Lozeron, V. Algalarrondo, C. Lacroix, C. Cauquil, C. Labeyrie, M. S. Slama, C. Adam, A. Guiochon‐Mantel, D. Adams, Thierry Maisonobe, Marc Léger, Tanya Stojkovic, Karine Viala, Jean‐Christophe Antoine, Jean‐Philippe Camdessanche, Christophe Vial, Philippe Petiot, Laurent Magy, Jean‐Michel Vallat, Jean Pouget, Shahram Attarian, Emilien Delmont, Claude Desnuelle, Arnaud Lacour, Eric Hachulla, Guilhem Sole, Yann Pereon, Andoni Echaniz‐Laguna, Christine Tranchant, Pierre Labauge, Juntas Morales, Aissatou Signate & Pierre Clavelou. (2018) Upper limb onset of hereditary transthyretin amyloidosis is common in non‐endemic areas. European Journal of Neurology 26:3, pages 497.
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Josef Finsterer, Stephan Iglseder, Julia Wanschitz, Raffi Topakian, Wolfgang N. Löscher & Wolfgang Grisold. (2019) Hereditary transthyretin-related amyloidosis. Acta Neurologica Scandinavica 139:2, pages 92-105.
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Marina Grandis, Alessandro Geroldi, Rossella Gulli, Fiore Manganelli, Fabio Gotta, Merit Lamp, Paola Origone, Lucia Trevisan, Chiara Gemelli, Sabrina Fabbri, Angelo Schenone, Stefano Tozza, Lucio Santoro, Emilia Bellone & Paola Mandich. (2018) Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy “in disguise”. Orphanet Journal of Rare Diseases 13:1.
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David Adams, Cécile Cauquil & Céline Labeyrie. (2017) Familial amyloid polyneuropathy. Current Opinion in Neurology 30:5, pages 481-489.
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Yusuf A Rajabally, David Adams, Philippe Latour & Shahram Attarian. (2016) Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses. Journal of Neurology, Neurosurgery & Psychiatry 87:10, pages 1051-1060.
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Kathleen Thornton Pearson & Scott Vota. (2016) Amyloidosis and its management: Amyloid neuropathies. Current Problems in Cancer 40:5-6, pages 198-208.
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Roberto Fancellu, Paolo Buzzo, Davide Faga, Mauro Morena, Omar Racchi, Sandro Salvarani & Pierangelo Scotto. (2016) Primary AL amyloidosis presenting as lower motor neuron disease. Journal of the Neurological Sciences 364, pages 177-179.
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Yesim Parman, David Adams, Laura Obici, Lucía Galán, Velina Guergueltcheva, Ole B. Suhr & Teresa Coelho. (2016) Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe. Current Opinion in Neurology 29:Supplement 1, pages S3-S13.
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Louise‐Laure MarianiPierre Lozeron, Marie Théaudin, Zoia Mincheva, Aissatou Signate, Beatrice Ducot, Vincent Algalarrondo, Christian Denier, Clovis Adam, Guillaume Nicolas, Didier Samuel, Michel S. Slama, Catherine Lacroix, Micheline Misrahi & David Adams. (2015) Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France. Annals of Neurology 78:6, pages 901-916.
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Namita A. GoyalTahseen Mozaffar. (2015) Tongue atrophy and fasciculations in transthyretin familial amyloid neuropathy. Neurology Genetics 1:2.
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E. Hund. (2014) Hereditäre Transthyretin-AmyloidosenHereditary transthyretin amyloidosis. Der Nervenarzt 85:10, pages 1291-1297.
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David Adams, Marie Théaudin, Cecile Cauquil, Vincent Algalarrondo & Michel Slama. (2014) FAP Neuropathy and Emerging Treatments. Current Neurology and Neuroscience Reports 14:3.
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